ライフサイエンスコーパス: rare

1 ion of certain important safety outcomes was rare.

2 al injury is common, but true myocarditis is rare.

3 d purely on photochemical isomerizations are rare.

4 ause large longitudinal studies of HRQoL are rare.

5 irect functionalization of P(4) has remained rare.

6 rs of the same grade category are relatively rare.

7 ulic traits when experiencing drought remain rare.

8 nsumption and improve user comfort, is still rare.

9 RA) models for toddlers and preschoolers are rare.

10 ions in which all three mechanisms occur are rare.

11 ng of detached pigment epithelial cells were rare.

12 psychosis and their unaffected siblings are rare.

13 cation for the synthesis of polymers remains rare.

14 lopment of redox-neutral transformations are rare.

15 ction cycles are reciprocally coupled remain rare.

16 Mn oxidation states of the S(3) state remain rare.

17 adienyl (C(4) ) complexes remain exceedingly rare.

18 opathic NPH, with the latter appearing to be rare.

19 ation increases as water sources become more rare.

20 However, liver-related complications are rare.

21 esponses to ongoing environmental change are rare.

22 AU Mic possesses a relatively rare(2) and spatially resolved(3) edge-on debris disk ex

23 ally defined HS oligosaccharides show that a rare 3-O-sulfation (3-O-S) of HS significantly enhances

24 Our work demonstrates that this rare 3-O-sulfation enhances tau-HS binding and likely th

25 Merkel cell carcinoma (MCC) is a rare, aggressive skin cancer commonly driven by the Merk

26 ecision, greatly increasing the fractions of rare alleles and, enhancing the sensitivity of downstrea

27 ngle cells within a larger group of cells is rare among existing cell rotation techniques.

28 Given that donor ESRD is rare, an earlier and more common postdonation outcome co

29 A continuous succession of the rare and abundant communities was observed.

30 nding of the mechanisms responsible for many rare and common diseases and driven development of novel

31 nt (63.3% vs. 6.1%; P < 0.0001).Conclusions: Rare and common environmental exposures are independent

32 this paradigm is the immediate detection of rare and common populations that outperforms popular clu

33 olygenic risk score (PRS) methods to examine rare and common variants.

34 hly degenerate frozen states may exhibit the rare and counterintuitive inverse-symmetry-breaking phen

35 These escape mutations are rare and drug-specific, and some combinations of avibact

36 Mycobacterium haemophilum is a rare and emerging nontuberculous mycobacteria (NTM).

37 to undertake species identifications of this rare and highly fragmented material.

38 ted with neurofibromatosis type 1 (NF1) is a rare and largely unknown complication of NF1.Objectives:

39 ll cell carcinoma of the bladder (SCCB) is a rare and lethal phenotype of bladder cancer.

40 Rare and low-frequency functional protein-coding variant

41 ons about the conservation and management of rare and nonindigenous species due to its relationship w

42 Adult-onset KD (AKD) is rare and often misdiagnosed.

43 Botulism is a rare and potentially fatal paralytic disease caused by b

44 ook a systematic characterization of diverse rare and private spliceosomal mutations to infer their l

45 Recurrent endophthalmitis is rare and seen most commonly after intravitreal injection

46 rogeneous catalysis, but they are expensive, rare and the ability to tailor their structures and prop

47 Second, species are rare and the data often contain many zeros.

48 s, or congenital anosmia (CA), is relatively rare and there is a knowledge gap regarding the compensa

49 esis to enable metabolic engineering of this rare and valuable compound.

50 y sanctioned matings of this nature are very rare, and are documented almost exclusively among politi

51 l ecosystem at the microbiome-wide scale are rare, and consequently we have a poor understanding of h

52 herapy for virological failure is relatively rare at this time, and the recommendations for switching

53 ations have been identified in patients with rare atypical orofacial clefts and with syndromic cleft

54 Tuberous sclerosis complex (TSC) is a rare autosomal dominant neurodevelopmental disorder char

55 spondylo-meta-epiphyseal dysplasia (SMED), a rare, autosomal recessive disorder characterized by shor

56 show that high-affinity vaccines targeting rare B cells capable of broadly protective antibody resp

57 The pattern of rare bacteria varied from host to host and was largely d

58 The phylogeny of rare bacteria was equally explained by local factors (so

59 ackground Hepatocellular adenomas (HCAs) are rare benign liver tumors.

60 e epiploic appendagitis (EA) is a relatively rare, benign and local inflammatory disease involving th

61 Human insulinomas are rare, benign, slowly proliferating, insulin-producing be

62 and were present typically as members of the rare biosphere in metagenomic data from uncontaminated f

63 he diversification of Pinnularia borealis, a rare biosphere soil diatom species complex, using a glob

64 ions in lithography, where sensing nanosized rare biotargets requires a wide active surface area for

65 s is 3-fold higher than the frequency of all rare BRIP1 missense alleles reported in more than 60,000

66 toid carcinoma of the eyelid is an extremely rare but aggressive neoplasm diagnosed primarily in elde

67 We illustrate the impact of these rare but intense NIW induced mixing events on the mixed

68 Nevertheless, rare but recurring RBD-specific antibodies with potent a

69 ad small-effect noncoding variants and/or by rare but severe coding variants, many de novo.

70 obal distribution that until recently caused rare but severe symptomatology including colony loss.

71 Malignant pleural mesothelioma (MPM) is a rare, but aggressive tumor with dismal prognosis.

72 set of common carcinomas, and in chordoma, a rare cancer showing notochordal differentiation, TBXT ac

73 Despite rare cancers accounting for 25% of adult tumors(1), they

74 icant unmet clinical needs for patients with rare cancers.

75 To our knowledge, this is a very rare case of a complete PEG rupture with the succeeding

76 This is a rare case of completely unilateral MFC following an epis

77 Here, we describe a rare case of highly efficient near-cognate initiation.

78 Here we report a rare case of KD with cholestasis as principal symptom.

79 We present a rare case of primary gastrointestinal histoplasmosis man

80 We present a rare case presenting to our emergency room with the comp

81 This was a rare case that demonstrated an association between IgG4

82 l myeloid progenitors in del(5q) MDS, and in rare cases drive the progression of other tumors.

83 directed mounting is aggressive, although in rare cases it can be sexual.

84 uncensored) survival data, in the relatively rare cases where genetic loss of HIF1A occurred without

85 tions of cells are incompatible with current rare cell enrichment technologies.

86 Furthermore, a rare cell population with monocyte-like transcriptional

87 o complex biology, revealing the behavior of rare cell populations that are masked in bulk population

88 d balances the performance between major and rare cell populations.

89 These rare cell subpopulations were associated with biological

90 and MIRACL-seq for label-free enrichment of rare cell types by droplet-based profiling.

91 loited in design of microfluidic devices for rare cells immunocapture.

92 iple gene modules that expressed together in rare cells within otherwise homogeneous clonal populatio

93 This approach may be applicable in other rare childhood ophthalmic disorders.

94 Whipple's disease (WD) is a rare, chronic, infection caused by gram-positive filamen

95 ish a state of nonproductive infection under rare circumstances, particularly in memory CD4+ T cells,

96 SNX19 transcript features that tag multiple rare classes of SNX19 transcripts, whereas they only wea

97 en psychotropic drugs and contraceptives are rare, clozapine, anticonvulsants, and St.

98 Rare co-localizations between pSTAT5 and vesicular GABA

99 se patients with nsCL/P and identified three rare coding variants (p.Ala86Thr, p.Met91Iso and p.Arg54

100 l protein folding and that positions of some rare codons are evolutionarily conserved.

101 nces in the 5' untranslated region (UTR) and rare codons at the beginning of their coding sequence.

102 re codons in protein sequences revealed that rare codons can impact co-translational protein folding

103 set that identified evolutionarily conserved rare codons in Escherichia coli genes and associated suc

104 Analyses of positions of such rare codons in protein sequences revealed that rare codo

105 at protein substructures preceding conserved rare codons tend to have lower contact orders, in line w

106 is essential to enable incorporation of the rare cognate amino acids into the growing peptide chain

107 y Insights on Bisphenol-A (CLARITY-BPA) is a rare collaboration of guideline-compliant (core) studies

108 ,8-dihydroxyadenine (2,8-DHA) nephropathy, a rare condition characterized by formation of 2,8-DHA cry

109 Hereditary diffuse gastric cancer is a rare condition that accounts for approximately 1-3% of a

110 ut this is not well studied, particularly in rare conditions.

111 oglobulin deficiency, asplenia, and/or other rare conditions.

112 nomics to investigate the molecular basis of rare congenital malformations, a significant fraction of

113 Some rare copy number variants (CNVs) are associated with sch

114 lding blocks allowed the construction of two rare covalent organic frameworks (COFs) with high crysta

115 pic and crystallographic characterization of rare Cu-hemiacetalate and Cu-hemiaminalate moieties from

116 Only rare data are available on its management and the outcom

117 thought that case-control studies required a rare disease assumption for valid risk ratio estimation,

118 Alkaptonuria (AKU) is a rare disease characterized by high levels of homogentisi

119 uencing has established clinical utility for rare disease diagnosis.

120 st for metabolome profiling is patients with rare disease for which abnormal metabolic signatures may

121 o estimation, but it was later realized that rare disease was not necessary.

122 for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138

123 Administration as a breakthrough drug for a rare disease.

124 These rare diseases are often the underlying cause of sudden c

125 Most patients with rare diseases do not receive a molecular diagnosis and t

126 philic gastrointestinal diseases (EGIDs) are rare diseases of the gastrointestinal tract caused by al

127 al Institutes of Health Research BioResource-Rare Diseases Study.

128 s become standard for genomic diagnostics of rare diseases.

129 evalence (93% accuracy for common vs 85% for rare diseases; P = .26).

130 Weill-Marchesani syndrome (WMS) is a rare disorder displaying short stature, brachydactyly an

131 tions of cortical development are a group of rare disorders commonly manifesting with developmental d

132 otile ciliopathies, a heterogeneous group of rare disorders.

133 nically inactive disease; acute blindness is rare during glucocorticoid treatment.

134 Cancer deaths were rare early post-transplant, but frequent at later time p

135 Compared to rare earth and silver-based NIR-II emitters, RNase-A@AuN

136 r quantum dots, perovskite nanocrystals, and rare earth doped phosphors), it is surprising that the d

137 Detection of rare earth elements (REE) is commonly performed with des

138 extraction (MSX) process for the recovery of rare earth elements (REEs) from scrap permanent magnets

139 The trace and rare earth elements content of 93 honeys of different bo

140 tion and single-shot spin measurement of six rare-earth (Er(3+)) ions, within the subwavelength volum

141 MOFs synthesized with rare-earth (RE) elements, which include scandium, yttriu

142 Herein, we report a series of mesoporous rare-earth (RE) MOFs that are constructed from an unusua

143 Orthorhombic RMnO(3) (R = rare-earth cation) compounds are type-II multiferroics i

144 c-field operation are important advances for rare-earth ion magneto-optical devices.

145 cal states in centrosymmetric oxides through rare-earth ion substitution.

146 The crucial next steps towards using single rare-earth ions for quantum networks are realizing long

147 olid-state platform based on single coherent rare-earth ions for the future quantum internet.

148 The separation of rare-earth ions from one another is challenging due to t

149 l breakthroughs in substituting precious and rare-Earth metal ions (e.g. Ru, Ir, Pt, Au, Eu) in these

150 The rare-earth monopnictide family is attracting an intense

151 in perpendicularly-magnetized iron garnets, rare-earth orbital magnetism gives rise to an intrinsic

152 n (ACC) strategy to achieve the synthesis of rare-earth single erbium (Er) atoms supported on carbon

153 ived from inorganic materials (e.g., oxides, rare-earth-based, and intermetallic compounds) are key c

154 Rare-earth-doped mode-locked fibre lasers that produce h

155 The high mortality associated with this rare entity means it requires early accurate diagnosis.

156 by Baiges et al [1] which shed light on the rare entity of Abernethy malformation and gives a workin

157 However, when faced with rare environments, the evolution of transcriptional regu

158 Multiple spacer integration is a rare event which significance for immunity is poorly und

159 Our results are consistent with rare evolutionary innovations in cold acclimation abilit

160 yclic ring, which upon hydrolysis produces a rare example of a macrocyclic paraphenylene 6 incorporat

161 network or core-shell-structured gel beads-a rare example of a supramolecular gel formulated inside d

162 This new dynamic gel is a rare example of a two-component self-assembled LMWG hydr

163 ers increased fitness to HSCs by analyzing a rare experiment of nature.

164 Our results provide rare experimental support for the strong negative effect

165 protein kinase (MAPK) pathway enhancing GFP(rare) expression.

166 Inherited optic neuropathies are rare eye diseases of optic nerve dysfunction that presen

167 smolts, the survivors were dominated by the rare few that left at intermediate sizes and times, coin

168 manufactured at large scales have remained a rare find.

169 Bloodstream infections are very rare for COVID-19 patients, which supports the judicious

170 cobacterium lepromatosis was identified in a rare form of leprosy known as diffuse lepromatous lepros

171 f the genomic landscape of acral melanoma, a rare form of melanoma occurring on palms, soles or nail

172 s of generalised pustular psoriasis (GPP), a rare form of psoriasis that can be caused by CARD14 muta

173 LCV is a rare form of vasculitis and one of the rarest dermatolog

174 However, rare FQ resistance among the more prevalent rifampin-sus

175 ower-acting standard negative selection, and rare functional resistant alleles do not prevent drive i

176 Ampullary adenocarcinoma is a rare gastrointestinal cancer in which WNT signalling dys

177 space, while coding sequence duplicates are rare, GC-rich, short, and tend not to interact.

178 Alexandrites are remarkable and rare gemstones.

179 While rare genetic variants play a role in the etiology of sch

180 strain variation genomes, and low-abundance, rare genomes.

181 ignificant, dose-dependent enrichment in the rare genus Veillonella, a commensal microbe known to hav

182 landscapes derived from these data provide a rare glimpse into Anfinsen's thermodynamic hypothesis an

183 LBL and BhGLM were able to detect a rare haplotype-smoking interaction in this region.

184 f CFH, CFI, and C3 genes because they harbor rare high-risk variants.

185 Merkel cell carcinoma (MCC) is a rare, highly aggressive skin cancer for which immune mod

186 oss a spectrum of frequency and effect, from rare, highly penetrant variants to common risk alleles w

187 By whole-exome sequencing, we identified rare homozygous germline missense or nonsense variants i

188 ies, and further variant analysis identified rare homozygous variants in TKFC.

189 3 proteins in inflammatory aortic disease, a rare human autoimmune disorder with increased levels of

190 ons that implicate Wallerian degeneration in rare human diseases; the capacity for lifelong rescue of

191 This work provides a rare illustration of how genotypic divergence has led to

192 RIP mutations are, however, relatively rare in coding sequence, in part because RIP preferentia

193 enes that control chromosome segregation are rare in human tumors as these mutations reduce cell fitn

194 Severe COVID-19 is rare in previously healthy individuals who are less than

195 Recombinant viruses are rare in the initial rebound virus populations but arise

196 Respiratory diphtheria remains rare in the United States, and requests for DAT have dec

197 ut screening a sufficient fraction to ensure rare infections are detected is simply infeasible for ma

198 Takayasu arteritis is a rare inflammatory disease of large arteries.

199 Chronic granulomatous disease (CGD) is a rare inherited disorder of phagocytic cells(1,2).

200 Rare inherited forms of CKD frequently span diverse phen

201 nvariant natural killer T (iNKT) cells are a rare innate-like lymphocyte population that recognizes g

202 In rare instances, paleontologists can infer asymmetry in p

203 Rare, intact proviruses can be detected in children who

204 1575Y kdr-amplifying mutation was relatively rare (< 15%).

205 eported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), s

206 ts can serve as a diagnostic marker for this rare malignancy.

207 on haematopoietic cells of all humans except rare MAM-negative individuals.

208 Fever of unknown origin (FUO) is a rare manifestation of cat scratch disease (CSD).

209 nitrogen cycling genes were detected in the rare members than in the abundant members, including amo

210 ford opportunities for replacing traditional rare-metal-based emitters for solar-energy conversion an

211 cal chemical methods (i.e. high temperature, rare metals).

212 fication of global transcriptomic changes in rare metastatic cells during seeding using single-cell R

213 mes alter the stability and functions of the rare microbial biosphere remains unknown.

214 different ethnic groups, BAG3 rs17617337 was rare (minor allele frequencies<0.05) in Asian and Africa

215 106 new BP-associated genomic regions and 87 rare (minor allele frequency <= 0.01) variant BP associa

216 revealed nearly 2% of patients carry a very rare missense variant (minor allele frequency < 0.0001)

217 for the generation of model systems to study rare mitochondrial diseases but was long deemed impossib

218 athy, and skin changes (POEMS) syndrome is a rare multisystem disease resulting from an underlying pl

219 and human T cells could be strengthened by a rare mutation (D839Y/N/E) from a European strain of SARS

220 their association to Rett Syndrome (RTT), a rare neurodevelopmental disorder.

221 imprinting, causes Angelman syndrome (AS), a rare neurodevelopmental disorder.

222 Prion diseases are rare, neurological disorders caused by the misfolding of

223 Whereas ATP1A3 is a replicated gene in rare neuropediatric diseases, this gene has previously b

224 Even now, achieving a cure seems to be a rare occurrence among individuals with RA.

225 Unexpected DDD was rare, occurring in 0.18% of all transplant recipients.

226 cies by sharing information among common and rare ones.

227 degrees C limit to life, and thus provide a rare opportunity to study the transition between habitab

228 riants associated with depression either are rare or have very modest effect sizes.

229 whether such gains of viral restriction are rare, or if they incur loss of pre-existing function aga

230 power to detect small effect sizes with this rare outcome.

231 us heterocycles, which can be converted to a rare oxo complex [{Th(Tren(TIPS) )(mu-ORb)}(2) ] (6) and

232 vior at fine spatial and temporal scales are rare, particularly among species that feed on highly mob

233 and whole-genome genotyping data to identify rare, pathogenic (P) or likely pathogenic (LP) variants

234 on kinetics is stochastically interrupted by rare pauses of 1-1000 s duration, of which the short-liv

235 Pineoblastoma is a rare pediatric cancer induced by germline mutations in t

236 of the phenomenon is still unknown, and as a rare, phenotypically resistant subpopulation, persisters

237 nts often exhibit relatively weaker NDD than rare plants at local scales is difficult to reconcile wi

238 The authors identified GM-CSF secretion in a rare population of CD11c(+) CD4(+) T cells that express

239 delivery of multiple drugs from one MOF are rare, potentially hampered by difficulties in postsynthe

240 This case report presents a rare presentation of PG with bilateral dense pigment dep

241 4 young male patients with severe COVID-19, rare putative loss-of-function variants of X-chromosomal

242 ty phylogeny and composition was observed in rare (R(2) = 0.65) than in abundant bacteria (R(2) = 0.0

243 C6-RET in males [50% (4/8)], along with some rare RET fusions, including SLC39A8-RET, ITIH2-RET, FYCO

244 l orbitofrontal cortex specifically detected rare reward events regardless of whether they followed a

245 n urban communities, where animal contact is rare, risk factors include cesarian section, and protect

246 smoplastic small round cell tumor (DSRCT), a rare sarcoma of adolescents/young adults primarily invol

247 igatus (1.4%) and cytomegalovirus (6%), were rare, scattering over 12 months across all SOT recipient

248 Multiple evanescent white dot syndrome is a rare self-limiting condition of the outer retina.

249 : To comprehensively evaluate the effects of rare SERPINA1 variants on lung function and emphysema ph

250 Although rare, several taxa use venom for agonistic intraspecific

251 pairs in which both twins harbored identical rare somatic mutations, suggesting a shared cell of orig

252 ting inversion of alkene stereochemistry are rare, sought-after transformations in the field of moder

253 whether community data may improve modelling rare species by sharing information among common and rar

254 This rare specificity encouraged us to interlink them in this

255 he genetic breakdown of lethality systems by rare spontaneous mutations, or selection for inherent su

256 These were rendered observable by extracting rare stochastic events out of an overwhelming background

257 be driven by stochastic plasticity, meaning rare stochastic transitions of single-cell phenotype.

258 New structural classes of antibiotics are rare, structurally novel broad-spectrum antibiotics exce

259 Although rare, subclinical tuberculosis disease can be missed dur

260 y, to mimic lung injury in vivo, selects for rare subsets of HBECs that activate low levels of telome

261 Here we report the preparation of rare sugar isomers directly from biomass carbohydrates t

262 These 'rare' sugars feature prominently in bioactive natural pr

263 ls the switching from the ubiquitous SAG1 to rare surface antigens not previously observed in tachyzo

264 mary hemophagocytic lymphohistiocytosis is a rare syndrome characterized by immune dysregulation and

265 Instead, those rare T cell families that dominate the chronic phase of

266 f soil microbes, especially the most diverse rare taxa in maintaining community diversity and multifu

267 e polarity of the solvent medium facilitates rare, thermally allowed full electron transfer from the

268 yptophan by regulating YtgR levels through a rare triple-tryptophan motif (WWW) in the YtgCR precurso

269 While rare TTN(LOF) variants confer a substantial AF penetranc

270 Pheochromocytomas and paragangliomas are a rare tumor entity originating from adrenomedullary chrom

271 uronal expression and activity of KPNA7 in a rare type of pediatric epilepsy.

272 dies support the functional pathogenicity of rare UQCRC1 variants in familial parkinsonism.

273 Within this cohort, gene-specific rare variant association tests were performed using 1832

274 ta from cases and controls were compared for rare variant burden across 56 cardiomyopathy genes utili

275 gene associations in cases versus controls, rare variant burden testing of 56 genes revealed enrichm

276 to better understand the diagnostic yield of rare variant genetic testing among a cohort of SCAD surv

277 hibitor) type Z heterozygotes and additional rare variant genotypes in the gene encoding alpha-1 anti

278 ood cancers may result in false estimates of rare variant penetrance from population biobanks.

279 Gene-based rare variant tests implicated a known prostate cancer ge

280 e Kernel Association Test (SKAT) to identify rare variant-associated diseases.

281 cases and 2.4% of controls had a qualifying rare variant.

282 Our study demonstrates the utility of rare-variant analyses for identifying candidate genes an

283 ccessfully genotyped SNPs (>96%) and for the rare variants (>99%).

284 g were resequenced for the identification of rare variants (allele frequency < 0.05) in 16.9 kB of SE

285 To identify rare variants associated with prostate cancer susceptibi

286 e individuals without PI Z, S, or additional rare variants denoted as V(R).

287 o sequencing panel to evaluate the burden of rare variants in 56 putative DCM genes in 1040 patients

288 he first large-scale, exome-wide analysis of rare variants in AMD.

289 ctively discriminating between recurrent and rare variants in the human cancer genome.

290 Rare variants in the microglia-expressed triggering rece

291 tism-specific" genes, efforts which focus on rare variants of large effect size that are thought to a

292 ture of each individual comprises common and rare variants that, acting alone and in combination, con

293 Frequency of rare variants was compared between late AMD patients and

294 examine the associations between common and rare variants with PWD.

295 e sets that have a significant enrichment of rare variants.

296 Kaposi's sarcoma (KS) is a rare vascular tumor associated with human herpesvirus (H

297 nsions outside the confines of the crypt are rare, we observed widespread millimeter-scale clonal exp

298 in prokaryotic oxidative stress response are rare, we sought to learn more about the DUF328 family.

299 nomas of the upper urinary tract (UTUCs) are rare, with poorer stage-for-stage prognosis than urothel

300 end on tumors for replication and spread are rare, with the only example being the retrovirus causing